Results 101 to 110 of about 8,642 (174)

Hyperoxaluria by the AGXT gene: a case report. [PDF]

J Med Case Rep
Naghettini AV, Mesquita AL, Santos AN, Moreira JVP, de Oliveira MCM, Fortes PM.   +5 more
europepmc   +1 more source

Claudin-2 deficiency reveals a corticomedullary calcium gradient driving kidney stone formation. [PDF]

J Clin Invest
Humphreys BD.
europepmc   +1 more source

Nephrocalcinosis

, 2012
Neesh Pannu, Xiaoyan Wen, John A. Kellum, John Fildes, N. Al-Subaie, Mark Hamilton, Susan M. Lareau, Richard H. Beigi, Lester Young, Kagan Ozer, Robert Kraft, David N. Herndon, Janeen R. Jordan, Jens-Peter Witt, Carlton C. Barnett, Nicole T. Townsend, Anastasia Antoniadou, Azriel Perel, Jos J. Settels, Prasad Devarajan, Lucido L. Ponce, Jovany Cruz, Claudia S. Robertson, Nattapong Jaimchariyatam, Nicholas S. Hill, Judd E. Hollander, Rinaldo Bellomo, Marin H. Kollef, Jeremy Kilburn, Marc G. Jeschke, Gerd G. Gauglitz, Pierre Singer, Haim Shapiro, Jan Wernerman, Krishnendu Bhadra, Renee D. Stapleton, Heather E. Skillman, Caitlin Curtis, Kenneth A. Kudsk, Georges Ouellet, Martine Leblanc   +40 more
openaire   +2 more sources

Enamel renal syndrome due to FAM20A mutations: challenging kidney management in view of nephrocalcinosis, hypophosphatemia and hypocalciuria. [PDF]

Orphanet J Rare Dis
Eid MT, de Mul A, Muresan-Vintila L, Derain Dubourg L, Bertholet-Thomas A, Molin A, Thivichon-Prince B, Bacchetta J.   +7 more
europepmc   +1 more source

Nephrocalcinosis: unveiling renal tubulopathies in the genomic era. [PDF]

J Bras Nefrol
Ayoub EAM, Vaisbich MH, Rocha DR, Cerqueira BP, Matos ACC, Pietrobom IG, Heilberg IP.   +6 more
europepmc   +1 more source

Nephrocalcinosis in a Child with Sotos Syndrome: A Case Report of Contiguous Gene Syndrome Encompassing <i>NSD1</i> and <i>SLC34A1</i> Genes. [PDF]

J Clin Med
Bargenda-Lange A, Jakubowska A, Medyńska A, Bajtek J, Śmigiel R, Kiliś-Pstrusińska K.   +5 more
europepmc   +1 more source

Primary hyperoxaluria type 1-current practice in the siRNA era: an ERA Genes & Kidney Working Group survey. [PDF]

Clin Kidney J
Bartram MP, Capasso G, Cornec-Le Gall E, Deesker LJ, van Eerde AM, Figueres L, Perez Gomez MV, Groothoff J, Oubram L, Halbritter J, Hoorn EJ, Nijenhuis T, Sayer JA, Beck BB, Müller RU, PH1 Survey Study Group, PH1 Survey Study Group .   +16 more
europepmc   +1 more source

Genetic and clinical phenotype of Dent disease in Chinese children and the etiological analysis of early - onset chronic kidney disease. [PDF]

Ital J Pediatr
Zhou L, Yu Z, Yang Y, Han Y, Qiu L, Zhang Y, Yang F, Zhou J.   +7 more
europepmc   +1 more source

Successful kidney transplantation in a patient with late-onset type II Bartter syndrome: A rare case report. [PDF]

Clin Nephrol Case Stud
Baligeri K, Shankar M, Sampath Kumar D, C Gurusiddiah S.   +3 more
europepmc   +1 more source

Delayed Diagnosis of Primary Hyperoxaluria and Systemic Oxalosis in a Hemodialysis Patient: A Case Report and Literature Review. [PDF]

Cureus
Benali H, El Mansouri M, Ait Elkihal I, Hamouche N, Chettati M, Fadili W, Laouad I.   +6 more
europepmc   +1 more source